Core D Project Summary The Fanconi anemia repository will support all projects within this PPG by processing and viably cryopreserving marrow and peripheral blood specimens from patients with Fanconi anemia. In addition to processing local samples, Core D will coordinate the shipment and receipt of FA marrow samples from outside collaborating institutions. DNA will be isolated from a portion of the cells for Fanconi anemia subtyping, and the remaining specimens will be viably cryopreserved for the experiments utilizing primary human samples in Project 1, 2, and 3. Marrow stromal cells will also be cultured to support investigations in Project 2. All samples will be labeled with a barcode and entered into our sample database together with clinical annotation for tracking and retrieval. A multiplexed targeted gene capture panel followed by next generation sequencing will be utilized to genotype Fanconi anemia patients who have not undergone clinical subtyping. Confirmatory functional validation assays will be coordinated with Core C as needed for variants of unknown clinical signficiance. De-identified clinical data will be entered into the sample database per IRB-approved protocol. Freshly drawn FA blood samples will be rapidly processed, flash frozen, shipped to collaborators for aldehyde adduct assays. Protein lysates will also be produced from freshly drawn FA samples, frozen, and shipped to collaborators for mass spectrometry analysis of DNA damage response pathways.